ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.1733dup (p.His578fs)

dbSNP: rs2147360104
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001806938 SCV002051601 pathogenic not provided 2021-02-25 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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